D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation |
| |
| Authors: | Del Grande A Conte A Lattante S Luigetti M Marangi G Zollino M Madia F Bisogni G Sabatelli M |
| |
| Affiliation: | Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. |
| |
| Abstract: | We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role. |
| |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ |
